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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500 New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks. This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.46248642G= , CM000666.2:g.46248642G=
GRCh38
NC_000004.11:g.46250659G= , CM000666.1:g.46250659G=
GRCh37
NC_000004.10:g.45945416G=
NCBI36
NG_012835.1:g.146398C=
NG_012835.2:g.146398C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000381620.9:c.*1666C=
MANE Select
ENSP00000371033.4:n.*1666C=
ENST00000510861.5:c.*1666C=
ENSP00000421828.1:n.*1666C=
ENST00000514090.5:c.*1666C=
ENSP00000421300.1:n.*1666C=
XM_005248080.2:c.*1666C=
XP_005248137.1:n.*1666C=
XM_011513675.1:c.*1666C=
XP_011511977.1:n.*1666C=
XM_011513676.1:c.*1666C=
XP_011511978.1:n.*1666C=
NM_000807.3:c.*1666C=
NP_000798.2:n.*1666C=
NM_001114175.2:c.*1666C=
NP_001107647.1:n.*1666C=
NM_001286827.2:c.*1666C=
NP_001273756.1:n.*1666C=
NM_001330690.1:c.*1666C=
NP_001317619.1:n.*1666C=
XM_017007982.2:c.*1666C=
XP_016863471.1:n.*1666C=
XM_017007983.2:c.*1666C=
XP_016863472.1:n.*1666C=
XM_024453963.1:c.*1666C=
XP_024309731.1:n.*1666C=
XM_024453964.1:c.*1666C=
XP_024309732.1:n.*1666C=
XM_024453965.1:c.*1666C=
XP_024309733.1:n.*1666C=
XM_024453966.1:c.*1666C=
XP_024309734.1:n.*1666C=
XM_024453967.1:c.*1666C=
XP_024309735.1:n.*1666C=
XM_024453968.1:c.*1666C=
XP_024309736.1:n.*1666C=
XM_024453969.1:c.*1666C=
XP_024309737.1:n.*1666C=
XM_024453970.1:c.*1666C=
XP_024309738.1:n.*1666C=
XM_024453971.1:c.*1666C=
XP_024309739.1:n.*1666C=
XM_024453972.1:c.*1666C=
XP_024309740.1:n.*1666C=
XM_024453973.1:c.*1666C=
XP_024309741.1:n.*1666C=
XM_024453974.1:c.*1666C=
XP_024309742.1:n.*1666C=
NM_000807.4:c.*1666C=
MANE Select
NP_000798.2:n.*1666C=
NM_001114175.3:c.*1666C=
NP_001107647.1:n.*1666C=
NM_001286827.3:c.*1666C=
NP_001273756.1:n.*1666C=
NM_001330690.2:c.*1666C=
NP_001317619.1:n.*1666C=
NM_001377144.1:c.*1666C=
NP_001364073.1:n.*1666C=
NM_001377145.1:c.*1666C=
NP_001364074.1:n.*1666C=
NM_001377146.1:c.*1666C=
NP_001364075.1:n.*1666C=
NM_001377147.1:c.*1666C=
NP_001364076.1:n.*1666C=
NM_001377148.1:c.*1666C=
NP_001364077.1:n.*1666C=
NM_001377149.1:c.*1666C=
NP_001364078.1:n.*1666C=
NM_001377150.1:c.*1666C=
NP_001364079.1:n.*1666C=
NM_001377151.1:c.*1666C=
NP_001364080.1:n.*1666C=
NM_001377152.1:c.*1666C=
NP_001364081.1:n.*1666C=
NM_001377153.1:c.*1666C=
NP_001364082.1:n.*1666C=
NM_001377154.1:c.*1666C=
NP_001364083.1:n.*1666C=